PRTN3 (proteinase 3) - Rat Genome Database

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Gene: PRTN3 (proteinase 3) Homo sapiens
Analyze
Symbol: PRTN3
Name: proteinase 3
RGD ID: 1312601
HGNC Page HGNC
Description: Enables enzyme binding activity; serine-type endopeptidase activity; and signaling receptor binding activity. Involved in several processes, including mature conventional dendritic cell differentiation; membrane protein ectodomain proteolysis; and neutrophil extravasation. Located in azurophil granule lumen; cytosol; and plasma membrane raft. Colocalizes with plasma membrane; INTERACTS WITH aflatoxin B1; aflatoxin B2; all-trans-retinoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ACPA; AGP7; azurophil granule protein 7; C-ANCA; C-ANCA antigen; CANCA; leukocyte proteinase 3; MBN; MBT; myeloblastin; neutrophil proteinase 4; NP-4; NP4; P29; PR-3; PR3; serine proteinase, neutrophil; wegener autoantigen; Wegener granulomatosis autoantigen
RGD Orthologs
Mouse
Rat
Bonobo
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19840,999 - 848,175 (+)EnsemblGRCh38hg38GRCh38
GRCh3819840,965 - 848,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719840,999 - 848,175 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619791,985 - 799,175 (+)NCBINCBI36hg18NCBI36
Build 3419791,964 - 799,051NCBI
Celera19766,135 - 773,326 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19610,181 - 617,038 (+)NCBIHuRef
CHM1_119840,583 - 847,665 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal oral cavity morphology  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Angina pectoris  (IAGP)
Arrhythmia  (IAGP)
Arthralgia  (IAGP)
Autoimmunity  (IAGP)
Cerebral ischemia  (IAGP)
Chest pain  (IAGP)
Chronic otitis media  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Cough  (IAGP)
Cranial nerve paralysis  (IAGP)
Diabetes insipidus  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Epistaxis  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glomerulopathy  (IAGP)
Granulomatosis  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hemiplegia  (IAGP)
Hemoptysis  (IAGP)
Hydronephrosis  (IAGP)
Hypertension  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Intestinal obstruction  (IAGP)
Meningitis  (IAGP)
Myalgia  (IAGP)
Nausea and vomiting  (IAGP)
Pancreatitis  (IAGP)
Papule  (IAGP)
Pericarditis  (IAGP)
Periorbital edema  (IAGP)
Pleuritis  (IAGP)
Proptosis  (IAGP)
Prostatitis  (IAGP)
Proteinuria  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Purpura  (IAGP)
Recurrent intrapulmonary hemorrhage  (IAGP)
Recurrent respiratory infections  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinopathy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Sinusitis  (IAGP)
Skin rash  (IAGP)
Skin ulcer  (IAGP)
Ureteral stenosis  (IAGP)
Vasculitis  (IAGP)
Venous thrombosis  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

Additional References at PubMed
PMID:1400430   PMID:1518849   PMID:1681549   PMID:1688612   PMID:2001463   PMID:2033050   PMID:2121162   PMID:2242436   PMID:2258701   PMID:2285532   PMID:2377228   PMID:2404977  
PMID:2501794   PMID:2598267   PMID:2679910   PMID:3513185   PMID:7654387   PMID:8261669   PMID:8629812   PMID:8738804   PMID:8757293   PMID:9924693   PMID:10339575   PMID:10498622  
PMID:10512713   PMID:10978167   PMID:11115080   PMID:11389039   PMID:11714826   PMID:11867344   PMID:12010574   PMID:12067299   PMID:12114510   PMID:12135665   PMID:12140766   PMID:12189154  
PMID:12191967   PMID:12200377   PMID:12354776   PMID:12393722   PMID:12444202   PMID:12477932   PMID:12506139   PMID:12538645   PMID:12832446   PMID:12894870   PMID:12960243   PMID:14525959  
PMID:14675038   PMID:15057824   PMID:15331626   PMID:15489334   PMID:15527767   PMID:15686586   PMID:15879139   PMID:15916759   PMID:15975933   PMID:16167885   PMID:16263417   PMID:16478888  
PMID:16488976   PMID:16502470   PMID:16598772   PMID:16792675   PMID:17088257   PMID:17158864   PMID:17244676   PMID:17412886   PMID:17452051   PMID:17534941   PMID:17634439   PMID:17681950  
PMID:17712045   PMID:17785293   PMID:18023421   PMID:18029348   PMID:18076025   PMID:18462208   PMID:18596726   PMID:18854317   PMID:19056867   PMID:19185066   PMID:19447886   PMID:19490915  
PMID:19494315   PMID:19913121   PMID:20059480   PMID:20155833   PMID:20412702   PMID:20412704   PMID:20423453   PMID:20491791   PMID:20530264   PMID:20551380   PMID:20592714   PMID:20628086  
PMID:20828556   PMID:21193404   PMID:21193407   PMID:21470489   PMID:21700341   PMID:21873635   PMID:22138257   PMID:22210048   PMID:22266279   PMID:22270365   PMID:22510451   PMID:22791638  
PMID:22844112   PMID:22936713   PMID:22952809   PMID:23202369   PMID:23380137   PMID:23533145   PMID:23911525   PMID:23957616   PMID:24052258   PMID:24271323   PMID:24291125   PMID:24719228  
PMID:24929239   PMID:24949444   PMID:24981860   PMID:24993595   PMID:25092677   PMID:25180606   PMID:25416382   PMID:25461407   PMID:25788529   PMID:25927497   PMID:26436651   PMID:26873743  
PMID:26939803   PMID:26961880   PMID:27559009   PMID:27752292   PMID:27821628   PMID:28029757   PMID:28240246   PMID:28339364   PMID:28428279   PMID:28546501   PMID:29079698   PMID:29132840  
PMID:29509190   PMID:29621735   PMID:30017196   PMID:30021768   PMID:30236095   PMID:30692621   PMID:30880498   PMID:30938436   PMID:31125555   PMID:31343991   PMID:31490025   PMID:31963828  
PMID:31995266   PMID:32303641   PMID:32794199   PMID:33023023   PMID:33679731  


Genomics

Comparative Map Data
PRTN3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19840,999 - 848,175 (+)EnsemblGRCh38hg38GRCh38
GRCh3819840,965 - 848,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719840,999 - 848,175 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619791,985 - 799,175 (+)NCBINCBI36hg18NCBI36
Build 3419791,964 - 799,051NCBI
Celera19766,135 - 773,326 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19610,181 - 617,038 (+)NCBIHuRef
CHM1_119840,583 - 847,665 (+)NCBICHM1_1
Prtn3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,715,501 - 79,719,008 (+)NCBIGRCm39mm39
GRCm39 Ensembl1079,710,310 - 79,719,008 (+)Ensembl
GRCm381079,879,667 - 79,883,174 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,874,476 - 79,883,174 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,342,412 - 79,345,919 (+)NCBIGRCm37mm9NCBIm37
MGSCv361079,282,796 - 79,286,303 (+)NCBImm8
Celera1080,894,480 - 80,897,987 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Prtn3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,822,123 - 9,831,300 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl79,822,122 - 9,831,944 (-)Ensembl
Rnor_6.0712,643,712 - 12,646,951 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,643,516 - 12,646,960 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,813,238 - 12,822,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,334,722 - 11,338,559 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1711,334,722 - 11,338,559 (-)NCBI
Celera77,997,078 - 8,000,317 (-)NCBICelera
Cytogenetic Map7q11NCBI
PRTN3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.119810,237 - 817,588 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v019283,314 - 291,504 (-)NCBIMhudiblu_PPA_v0panPan3
PRTN3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,520,334 - 77,523,419 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,520,314 - 77,526,303 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,472,358 - 77,477,327 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRTN3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16590,193 - 598,829 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660818,318,743 - 8,324,146 (-)NCBIVero_WHO_p1.0

Position Markers
SGC35286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719848,021 - 848,250UniSTSGRCh37
GRCh3719848,021 - 848,170UniSTSGRCh37
Build 3619799,021 - 799,170RGDNCBI36
Celera19773,172 - 773,401UniSTS
Celera19773,172 - 773,321RGD
Cytogenetic Map19p13.3UniSTS
HuRef19616,884 - 617,033UniSTS
HuRef19616,884 - 617,113UniSTS
GeneMap99-GB4 RH Map1918.48UniSTS
Whitehead-RH Map196.2UniSTS
GDB:278196  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:755
Count of miRNA genes:322
Interacting mature miRNAs:342
Transcripts:ENST00000234347, ENST00000544537
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 15 29 2
Medium 1 510 29 18 674 18 5 7 11 2 1 231 6 4
Low 274 581 738 135 400 122 509 337 1891 72 413 720 16 420 192 1
Below cutoff 1493 1269 744 285 232 174 2337 1332 1310 176 778 500 113 638 1531 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC212840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN647680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT222231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M29142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M75154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000234347   ⟹   ENSP00000234347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19840,999 - 848,175 (+)Ensembl
RefSeq Acc Id: ENST00000544537   ⟹   ENSP00000475174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19843,341 - 848,175 (+)Ensembl
RefSeq Acc Id: NM_002777   ⟹   NP_002768
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819840,999 - 848,175 (+)NCBI
GRCh3719840,985 - 848,175 (+)ENTREZGENE
Build 3619791,985 - 799,175 (+)NCBI Archive
HuRef19610,181 - 617,038 (+)ENTREZGENE
CHM1_119840,583 - 847,665 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528136   ⟹   XP_011526438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819840,965 - 847,836 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002768   ⟸   NM_002777
- Peptide Label: precursor
- UniProtKB: P24158 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526438   ⟸   XM_011528136
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000475174   ⟸   ENST00000544537
RefSeq Acc Id: ENSP00000234347   ⟸   ENST00000234347
Protein Domains
Peptidase S1

Promoters
RGD ID:6795947
Promoter ID:HG_KWN:28342
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_002777
Position:
Human AssemblyChrPosition (strand)Source
Build 3619791,741 - 792,241 (+)MPROMDB
RGD ID:7237741
Promoter ID:EPDNEW_H24616
Type:initiation region
Name:PRTN3_1
Description:proteinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819840,999 - 841,059EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:677680-899104)x3 copy number gain See cases [RCV000054105] Chr19:677680..899104 [GRCh38]
Chr19:677680..899104 [GRCh37]
Chr19:628680..850104 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:839492-995558)x1 copy number loss See cases [RCV000134491] Chr19:839492..995558 [GRCh38]
Chr19:839492..995557 [GRCh37]
Chr19:790492..946557 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:789890-859214)x3 copy number gain not provided [RCV000739945] Chr19:789890..859214 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:789890-880080)x3 copy number gain not provided [RCV000752464] Chr19:789890..880080 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:789890-941603)x3 copy number gain not provided [RCV000752465] Chr19:789890..941603 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:801381-847944)x3 copy number gain not provided [RCV000752466] Chr19:801381..847944 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:801381-945710)x3 copy number gain not provided [RCV000752467] Chr19:801381..945710 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:801381-1008645)x3 copy number gain not provided [RCV000752468] Chr19:801381..1008645 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804080-879947)x3 copy number gain not provided [RCV000752469] Chr19:804080..879947 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804908-931523)x3 copy number gain not provided [RCV000752470] Chr19:804908..931523 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804908-1008216)x3 copy number gain not provided [RCV000752471] Chr19:804908..1008216 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:839158-857215)x1 copy number loss not provided [RCV000752472] Chr19:839158..857215 [GRCh37]
Chr19:19p13.3
benign
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_002777.4(PRTN3):c.15C>T (p.Pro5=) single nucleotide variant not provided [RCV000899055] Chr19:841023 [GRCh38]
Chr19:841023 [GRCh37]
Chr19:19p13.3
likely benign
NM_002777.4(PRTN3):c.198G>T (p.Val66=) single nucleotide variant not provided [RCV000968965] Chr19:843597 [GRCh38]
Chr19:843597 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_002777.4(PRTN3):c.11G>A (p.Arg4Gln) single nucleotide variant not provided [RCV000887608] Chr19:841019 [GRCh38]
Chr19:841019 [GRCh37]
Chr19:19p13.3
likely benign
NM_002777.4(PRTN3):c.210G>T (p.Ala70=) single nucleotide variant not provided [RCV000890638] Chr19:843609 [GRCh38]
Chr19:843609 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9495 AgrOrtholog
COSMIC PRTN3 COSMIC
Ensembl Genes ENSG00000196415 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277804 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000234347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475174 UniProtKB/TrEMBL
  ENSP00000478164 UniProtKB/TrEMBL
  ENSP00000478977 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000234347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000544537 UniProtKB/TrEMBL
  ENST00000612112 UniProtKB/Swiss-Prot
  ENST00000622152 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196415 GTEx
  ENSG00000277804 GTEx
HGNC ID HGNC:9495 ENTREZGENE
Human Proteome Map PRTN3 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5657 UniProtKB/Swiss-Prot
NCBI Gene 5657 ENTREZGENE
OMIM 177020 OMIM
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33842 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6CHE9_HUMAN UniProtKB/TrEMBL
  P24158 ENTREZGENE, UniProtKB/Swiss-Prot
  U3KPS2_HUMAN UniProtKB/TrEMBL
UniProt Secondary P15637 UniProtKB/Swiss-Prot
  P18078 UniProtKB/Swiss-Prot
  Q4VB08 UniProtKB/Swiss-Prot
  Q4VB09 UniProtKB/Swiss-Prot
  Q6LBM7 UniProtKB/Swiss-Prot
  Q6LBN2 UniProtKB/Swiss-Prot
  Q9UD25 UniProtKB/Swiss-Prot
  Q9UQD8 UniProtKB/Swiss-Prot